Varaico: Literature-Extracted Genetic Variants

TERT

3,344 papers

RefSeq Summary

Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, enc...

Pfam Domains

Telomerase_RBDaa 460–592UCSCTelomerase ribonucleoprotein complex - RNA binding domain

TERT_Caa 968–1097UCSCTelomerase reverse transcriptase, C-terminal extension

Gene Aliases

HGNC Name

telomerase reverse transcriptase

HGNC Alias Symbols

TRT; TP2; TCS1; hEST2; EST2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_198253.3

p.P33R

c.98C>G

Surrounding Variants

2 papers

NM_198253.3

p.P33L

c.98C>T

3 papers

NM_198253.3

p.P33H

c.98C>A

15 papers

NM_198253.3

p.P33S

c.97C>T

2 papers

NM_198253.3

p.P33P

c.99C>T

1 paper

NM_198253.3

p.P33A

c.97C>G

1 paper

NM_198253.3

p.P33T

c.97C>A

1 paper

NM_198253.3

p.G32delFs

c.95_96delCC

1 paper

NM_198253.3

p.G32G

c.96G>T

5 papers

NM_198253.3

p.Q34*

c.100C>T

1 paper

NM_198253.3

p.G32_P33ins0

c.94_99dup6

2 papers

NM_198253.3

p.G32A

c.95G>C

1 paper

NM_198253.3

p.Q34H

c.102G>T